Linked Data
ClinVar Variation Id:
102592
dbSNP Id:
rs62509021
ExAC:
12:103233031 G / A
gnomAD v2:
12-103233031-G-A
gnomAD v3:
12-102839253-G-A
gnomAD v4:
12-102839253-G-A
ERepo:
CA229433/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102839253G>A , CM000674.2:g.102839253G>A | GRCh38 |
| NC_000012.11:g.103233031G>A , CM000674.1:g.103233031G>A | GRCh37 |
| NC_000012.10:g.101757161G>A | NCBI36 |
| NG_008690.1:g.83350C>T | |
| NG_008690.2:g.124158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1316-35C>T MANE Select | ENSP00000448059.1:n.1316-35C>T | |
| ENST00000307000.7:c.1301-35C>T | ENSP00000303500.2:n.1301-35C>T | |
| ENST00000551114.2:n.978-35C>T | ||
| ENST00000553106.5:c.1316-35C>T | ENSP00000448059.1:n.1316-35C>T | |
| ENST00000635477.1:c.420-35C>T | ||
| ENST00000635528.1:n.831-35C>T | ||
| NM_000277.1:c.1316-35C>T | NP_000268.1:n.1316-35C>T | |
| XM_011538422.1:c.1259-35C>T | XP_011536724.1:n.1259-35C>T | |
| NM_000277.2:c.1316-35C>T | NP_000268.1:n.1316-35C>T | |
| NM_001354304.1:c.1316-35C>T | NP_001341233.1:n.1316-35C>T | |
| NM_000277.3:c.1316-35C>T MANE Select | NP_000268.1:n.1316-35C>T | |
| NM_001354304.2:c.1316-35C>T | NP_001341233.1:n.1316-35C>T |